Area of research
Genetics · Sensory Systems
Research interest
Research interests include Hearing, Cochlea, Tinnitus, Genetics, Retinal Development and Disorders, Cleft Lip and Palate Research, and Genetic Associations and Epidemiology.
Whole-Genome DNA Methylation Analysis in Age-Related Hearing Loss
<i>ABCA7</i> deletion lowers age at onset of Alzheimer's disease and interacts with <i>APOE</i> ε4 synergistically in African‐ancestry populations
Diverse-Ancestry GWAS of Age-Related Macular Degeneration on 16,108 Examined Cases and 18,038 Controls
The natural history and genotype–phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis
Parent experiences with genetic testing for pediatric hearing loss
The role of sirtuins and uncoupling proteins on vascular aging: The Northern Manhattan Study experience
Diverse ancestry GWAS for advanced age-related macular degeneration in TOPMed-imputed and Ophthalmologically-confirmed 16,108 cases and 18,038 controls
Review of Genotype-Phenotype Correlations in Usher Syndrome
Peripheral vestibular system: Age-related vestibular loss and associated deficits
A nonsense <i>TMEM43</i> variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder
Genetics and the Individualized Therapy of Vestibular Disorders
Usher Syndrome in the Inner Ear: Etiologies and Advances in Gene Therapy
DNA Methylation Variation Is Identified in Monozygotic Twins Discordant for Non-syndromic Cleft Lip and Palate
Spectrum of MYO7A Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Compound Heterozygous Mutations
Identification of a genetic variant underlying familial cases of recurrent benign paroxysmal positional vertigo
Vestibular Oriented Research Meeting, February 16 – 17, 2021
COVID19: A Systematic Approach to Early Identification and Healthcare Worker Protection
Recent advancements in understanding the role of epigenetics in the auditory system
Variation in <i>SIPA1L2</i> is correlated with phenotype modification in Charcot– Marie– Tooth disease type 1A
Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study
<i>PBX‐WNT‐P63‐IRF6</i>pathway in nonsyndromic cleft lip and palate
Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis
Dysfunction of <i>GRAP</i> , encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss
Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss
Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies
<i>FOXF2</i>is required for cochlear development in humans and mice
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss
Precision medicine in hearing loss
A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss
Targeted Next-Generation Sequencing of a Deafness Gene Panel (MiamiOtoGenes) Analysis in Families Unsuitable for Linkage Analysis